Article ID Journal Published Year Pages File Type
4030972 Ophthalmology 2006 4 Pages PDF
Abstract

PurposeTo describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.DesignRetrospective case series.ParticipantsPatients with genetically proven Danon disease.MethodsRetrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography.ResultsFive females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium.ConclusionWe report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.

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Health Sciences Medicine and Dentistry Ophthalmology
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